Kongenitales Myasthenie-Syndrom bei einer 18-jährigen Kroatin durch Homozygotie 
für die 1267delG-Mutation im Gen für die ε -Untereinheit des 
Azetylcholinrezeptors

Kalischewski, P; Kraner, S; Reuter, M; Köhler, W; Steinlein, O; Sieb, J

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Kongenitales Myasthenie-Syndrom bei einer 18-jährigen Kroatin durch Homozygotie für die 1267delG-Mutation im Gen für die ε -Untereinheit des Azetylcholinrezeptors

Kalischewski, P., Kraner, S., Reuter, M., Köhler, W., Steinlein, O., & Sieb, J. (2002). Kongenitales Myasthenie-Syndrom bei einer 18-jährigen Kroatin durch Homozygotie für die 1267delG-Mutation im Gen für die ε -Untereinheit des Azetylcholinrezeptors. Aktuelle Neurologie, 29(6), 298-300.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-000E-A19D-F Version Permalink: https://hdl.handle.net/11858/00-001M-0000-000E-A19E-D

Genre: Journal Article

Alternative Title : Congenital Myasthenic-Syndrome due to Homozygosity of the 1267delG ε -AChR subunit mutation in a 18-year-old Croatian woman

Alternative Title : Aktuelle Neurol.

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Creators:
Kalischewski, P¹, Author
Kraner, S¹, Author
Reuter, M¹, Author
Köhler, W¹, Author
Steinlein, O¹, Author
Sieb, J¹, Author

Affiliations:
1Max Planck Institute of Psychiatry, Max Planck Society, ou_1607137

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Abstract: Congenital myasthenic syndromes are extremely rare disorders. We report the case of an 18-year-old Croatian woman with homozygosity of the 1267delG mutation of the epsilon acetylcholine receptor subunit gene. She showed limb-girdle weakness accompanied with increased fatigability and a nearly complete external ophthalmoplegia. The therapeutic effect of pyridostigmine was relatively poor. The pathological mechanisms of acetylcholine receptor subunit mutations are discussed.

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Language(s): deu - German

Dates: Date issued: 2002-08

Publication Status: Issued

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Rev. Type: Peer

Identifiers: eDoc: 4102
ISI: 000177410100005

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Title: Aktuelle Neurologie

Alternative Title : Aktuelle Neurol.

Source Genre: Journal

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Pages: - Volume / Issue: 29 (6) Sequence Number: - Start / End Page: 298 - 300 Identifier: ISSN: 0302-4350